1. Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy.
- Author
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Hosoda Y, Miyake M, Schellevis RL, Boon CJF, Hoyng CB, Miki A, Meguro A, Sakurada Y, Yoneyama S, Takasago Y, Hata M, Muraoka Y, Nakanishi H, Oishi A, Ooto S, Tamura H, Uji A, Miyata M, Takahashi A, Ueda-Arakawa N, Tajima A, Sato T, Mizuki N, Shiragami C, Iida T, Khor CC, Wong TY, Yamada R, Honda S, de Jong EK, Hollander AID, Matsuda F, Yamashiro K, and Tsujikawa A
- Subjects
- Alleles, Case-Control Studies, Central Serous Chorioretinopathy epidemiology, Computational Biology methods, Databases, Genetic, Europe epidemiology, Female, Gene Expression, Humans, Male, Odds Ratio, Quantitative Trait Loci, Central Serous Chorioretinopathy genetics, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study
- Abstract
The recently emerged pachychoroid concept has changed the understanding of age-related macular degeneration (AMD), which is a major cause of blindness; recent studies attributed AMD in part to pachychoroid disease central serous chorioretinopathy (CSC), suggesting the importance of elucidating the CSC pathogenesis. Our large genome-wide association study followed by validation studies in three independent Japanese and European cohorts, consisting of 1546 CSC samples and 13,029 controls, identified two novel CSC susceptibility loci: TNFRSF10A-LOC389641 and near GATA5 (rs13278062, odds ratio = 1.35, P = 1.26 × 10
-13 ; rs6061548, odds ratio = 1.63, P = 5.36 × 10-15 ). A T allele at TNFRSF10A-LOC389641 rs13278062, a risk allele for CSC, is known to be a risk allele for AMD. This study not only identified new susceptibility genes for CSC, but also improves the understanding of the pathogenesis of AMD., Competing Interests: Competing interestsThe authors declare no competing interests., (© The Author(s) 2019.)- Published
- 2019
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